rs113812345(T;T)
From SNPedia
| Marfan syndrome mutation |
| Is a | genotype |
| of | rs113812345 |
| Gene | FBN1 |
| Chromosome | 15 |
| Position | 48,513,591 |
| mentioned | by |
| Magnitude | 6 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
| (T;T) | 6 | Marfan syndrome mutation |
see rs113812345 and Marfan syndrome
